Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci.
Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci.
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DOI：
10.1002/pd.3993
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发表时间：
2012-12
影响因子：
3
通讯作者：
Rabinowitz, Matthew
中科院分区：
文献类型：
--
作者：
Zimmermann, Bernhard;Hill, Matthew;Gemelos, George;Demko, Zachary;Banjevic, Milena;Baner, Johan;Ryan, Allison;Sigurjonsson, Styrmir;Chopra, Nikhil;Dodd, Michael;Levy, Brynn;Rabinowitz, Matthew
开发一种基于母血中游离DNA分析的非侵入性产前检测，以检测胎儿13、18、21、X和Y染色体的非整倍体。采用基于信息学的方法分析了166例孕妇样本，包括11例21三体，3例18三体，2例13三体，2例45，X和2例47，XXY样本。分离来自母体血液的无细胞DNA，并使用多重PCR测定在单个反应中靶向染色体13、18、21、X和Y上的11，000个SNP进行扩增，然后测序。应用基于贝叶斯的最大似然统计方法确定每份样本中询问的5条染色体的染色体计数，沿着计算每份测试结果的样本特异性准确度。该算法正确报告了通过DNA质量测试的145个样本中所有五条染色体的染色体拷贝数，总共725/725正确调用。这些样品的平均计算准确度为99.92%。21份样本未通过DNA质量检测。这种基于信息学的方法非侵入性地检测了具有13、18和21、45、X和47、XXY三体的胎儿，对于每个染色体和所有五条染色体具有高样本特异性计算准确度。
Develop a non-invasive prenatal test based on analysis of cell-free DNA in maternal blood to detect fetal aneuploidy at chromosomes 13, 18, 21, X, and Y. 166 samples from pregnant women, including eleven trisomy 21, three trisomy 18, two trisomy 13, two 45,X, and two 47,XXY samples were analyzed using an informatics-based method. Cell-free DNA from maternal blood was isolated and amplified using a multiplex PCR assay targeting 11,000 SNPs on chromosomes 13, 18, 21, X, and Y in a single reaction, then sequenced. A Bayesian-based Maximum Likelihood statistical method was applied to determine the chromosomal count of the five chromosomes interrogated in each sample, along with a sample-specific calculated accuracy for each test result. The algorithm correctly reported the chromosome copy number at all five chromosomes in 145 samples that passed a DNA quality test, for a total of 725/725 correct calls. The average calculated accuracy for these samples was 99.92%. Twenty-one samples did not pass the DNA quality test. This informatics-based method non-invasively detected fetuses with trisomy 13, 18, and 21, 45,X, and 47,XXY with high sample-specific calculated accuracies for each individual chromosome and across all five chromosomes.
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影响因子：
4
作者：
Johnson DS;Cinnioglu C;Ross R;Filby A;Gemelos G;Hill M;Ryan A;Smotrich D;Rabinowitz M;Murray MJ
通讯作者：
Murray MJ
影响因子：
30.8
作者：
Alkan, Can;Kidd, Jeffrey M.;Marques-Bonet, Tomas;Aksay, Gozde;Antonacci, Francesca;Hormozdiari, Fereydoun;Kitzman, Jacob O.;Baker, Carl;Malig, Maika;Mutlu, Onur;Sahinalp, S. Cenk;Gibbs, Richard A.;Eichler, Evan E.
通讯作者：
Eichler, Evan E.
影响因子：
3
作者：
Bianchi, DW;Simpson, JL;Wapner, RJ
通讯作者：
Wapner, RJ
影响因子：
9.8
作者：
Norton, Mary E.;Brar, Herb;Song, Ken
通讯作者：
Song, Ken
影响因子：
9.3
作者：
Chiu, Rossa W. K.;Sun, Hao;Lo, Y. M. Dennis
通讯作者：
Lo, Y. M. Dennis